| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Thr9Ala |
c.25A>G |
2 |
9 |
Ju, NM, RP |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1864 |
04-RO21-A12A-965 | Male |
Heterozygous |
UV |
|
0 |
|
| p.Thr251Ala |
c.751A>G |
4 |
251 |
Sm,NM,NMH,FA,HD |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1961 |
04-MA19-I19A-954 | Female |
|
UV |
|
0 |
|
| p.Thr541Ala |
c.1621A>G |
10 |
541 |
Sm3,CH |
|
Small rearrangement |
Ts |
A->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1700 |
0-000-000-000 | |
Heterozygous |
Polymorphism |
|
30 |
|